Preferred Label : SH2D1A wt Allele;
NCIt synonyms : XLPD1; SAP/SH2D1A; MTCP1; DSHP; XLP; EBVS; RP5-1052M9.3; IMD5; FLJ18687; FLJ92177; LYP; XLPD; SAP; SH2 Domain Containing 1A wt Allele; SH2 Domain Protein 1A, Duncan's Disease (Lymphoproliferative Syndrome) Gene;
NCIt definition : Human SH2D1A wild-type allele is located within Xq25-q26 and is approximately 27 kb
in length. This allele, which encodes SH2 domain protein 1A, plays role in activation,
proliferation and differentiation of B and T cells, induces production of IFN gamma,
and changes the functional profile of subsets of T cells. Mutations in this gene are
associated with X-linked lymphoproliferative syndrome 1 (Duncan Disease).;
NCIt note : SH2D1A/SLAM is a protein that is centrally involved in the bidirectional stimulation
of T and B cells. When activated, it mediates expansion of activated T cells during
immune responses, induces production of interferon-gamma, and changes the functional
profile of subsets of T cells. Signaling through SLAM-SLAM binding during mutual interaction
between B cells, and between B cells and T cells, increases the expansion and differentiation
of activated B cells.;
GenBank Accession Number : AL023657; NM_002351;
Origin ID : C75394;
UMLS CUI : C2699241;
False automatic mappings
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
